Locations

The Johns Hopkins Hospital
Appointment Phone: 410-955-3071

Background

Dr. Harry “Hal” Dietz is a professor of pediatrics, an associate professor of medicine and an assistant professor of neurological surgery at the Johns Hopkins University School of Medicine. He is the Victor A. McKusick Professor of Genetics and also serves as the director of the William S. Smilow Center for Marfan Syndrome Research.

Recognized as the world’s leading authority on Marfan syndrome, Dr. Dietz conducted genomic mapping and research on therapeutic agents for deficiencies in the genetic protein fibrillin, which is linked to Marfan syndrome. His research contributions have made diagnosis of the condition patient-specific and accurate.

He has received more than 50 national and international awards and honors, including the Antoine Marfan Award from the National Marfan Foundation and the Art of Listening Award from the American Heart Association.

Dr. Dietz is an ad hoc reviewer for 19 different organizations, including the American Journal of Cardiology, the Archives of Pediatric and Adolescent Medicine and the Journal of Clinical Investigation. Over more than two decades, Dr. Dietz has mentored approximately 50 predoctoral and postdoctoral researchers. He has authored 213 original publications in peer-reviewed journals, 22 textbook chapters and 226 abstracts, and has also delivered more than 350 lectures on Marfan syndrome and related genetic disorders.

Dr. Dietz completed his B.S. at Duke University and received his M.D. from the SUNY Upstate School of Medicine. He completed a pediatric residency and a cardiology fellowship at Johns Hopkins University before joining the faculty in 1992. He is also board-certified by the American Board of Pediatrics.

Residencies

Fellowships

Research & Publications

Research Summary

Dr. Dietz and his laboratory team are interested in the development and homeostasis of the arterial wall.

One goal is to understand genetic factors that predispose to aortic aneurysm, a condition accounting for 1-2 percent of deaths in industrialized countries. Their initial approach has been to study Marfan syndrome (MFS), a genetic disease that includes aortic aneurysm as part of the condition and that is caused by mutations in a single gene. It is anticipated that a comprehensive understanding of the cause, progression, and modulation of MFS will promote a greater understanding of vascular wall biology.

Other vascular disorders currently being studied include: familial tetralogy of Fallot, cerebral cavernous malformation, a novel dominant syndrome of premature aging that prominently includes the cardiovascular system, the association of bicuspid aortic valve with aneurysm, and a novel and aggressive aneurysm phenotype called Loeys-Dietz syndrome.

During their study of MFS, the Dietz lab recognized that a particular type of mutation is associated with very low levels of mutant RNA and tends to cause very mild forms of the disease.

A second major interest of the laboratory is to understand the mechanism of nonsense-mediated mRNA decay; to evaluate its basic biologic purpose; and to assess its role as a potent modulator of disease severity in a wide variety of genetic disorders.

Selected Publications

"The Extracellular Matrix in Homeostatic, Autoimmune and Fibrotic Disease." Northwestern Lectures in Life Sciences, Northwestern University, Chicago, IL, January 2015.

"Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders." Laennec Clinician/Educator Lecture, American Heart Association Scientific Sessions, Chicago, IL, November 2014.

"Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders." Stevenson Lecture, University of Western Ontario, London, Ontario, November 2014.

"Found in Translation: New Insights into the Pathogenesis and Treatment of Marfan Syndrome and Related Disorders." Centro de Biolog&iacute;a Molecular "Severo Ochoa" Consejo Superior de Investigaciones Cient&iacute;ficas Madrid, Spain, October 2014.

"Conditional Provocations in a Knock-In-Mouse Model of Marfan Syndrome" (Basic Science Session), " New Therapeutic Opportunities in MFS and LDS as Revealed by Modifier Studies in Patients and Mouse Models." (Mechanisms and Options for Therapeutic Interventions Session), 9th International Research Symposium on Marfan Syndrome and Related Disorders, The Marfan Foundation, Paris (France), September 2014.